Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.L382P

SHH

643 papers

RefSeq Summary

This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior lim...

Pfam Domains

HH_signalaa 24–184UCSCHedgehog amino-terminal signalling domain
Hintaa 186–448UCSCHint module

Gene Aliases

HGNC Name

sonic hedgehog signaling molecule

HGNC Previous Symbols

HPE3; HLP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000193.4
p.L382P
c.1145T>C
Surrounding Variants
5 papers
NM_000193.4
p.A383T
c.1147G>A
1 paper
NM_000193.4
p.R381L
c.1142G>T
4 papers
NM_000193.4
p.R381P
c.1142G>C
4 papers
NM_000193.4
p.A378_F380del3
c.1132_1139del9
1 paper
NM_000193.4
p.F380_H384del0
c.1138_1152del15
1 paper
NM_000193.4
p.F377S
c.1130T>C
1 paper
NM_000193.4
p.A376D
c.1127C>A
1 paper
NM_000193.4
p.R375R
c.1125G>T
1 paper
NM_000193.4
p.A389T
c.1165G>A
1 paper
NM_000193.4
p.H374R
c.1121A>G
1 paper
NM_000193.4
p.A391T
c.1171G>A
1 paper
NM_000193.4
p.A391fs
c.1171_1172fs
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